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Genome Biol. 2012 Feb 9;13(2):R9. doi: 10.1186/gb-2012-13-2-r9.

Predicting the effects of frameshifting indels.

Author information

1
Department of Mathematics and Computer Science, Franklin and Marshall College, 415 Harrisburg Ave, Lancaster, PA 17603, USA.

Abstract

Each human has approximately 50 to 280 frameshifting indels, yet their implications are unknown. We created SIFT Indel, a prediction method for frameshifting indels that has 84% accuracy. The percentage of human frameshifting indels predicted to be gene-damaging is negatively correlated with allele frequency. We also show that although the first frameshifting indel in a gene causes loss of function, there is a tendency for the second frameshifting indel to compensate and restore protein function. SIFT Indel is available at http://sift-dna.org/www/SIFT_indels2.html.

PMID:
22322200
PMCID:
PMC3334572
DOI:
10.1186/gb-2012-13-2-r9
[Indexed for MEDLINE]
Free PMC Article

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